U.S. flag

An official website of the United States government

NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs) AND Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001265450.1

Allele description [Variation Report for NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)]

NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)

Gene:
ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs)
HGVS:
  • NC_000018.10:g.33744357_33744361dup
  • NG_055244.1:g.170781_170785dup
  • NM_030632.3:c.4509_4513dupMANE SELECT
  • NP_085135.1:p.Val1505fs
  • NC_000018.9:g.31324321_31324325dup
  • NM_030632.1:c.4509_4513dupACCAG
Protein change:
V1505fs
Links:
dbSNP: rs1555744396
NCBI 1000 Genomes Browser:
rs1555744396
Molecular consequence:
  • NM_030632.3:c.4509_4513dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (BRPS)
Synonyms:
Bainbridge-Ropers syndrome
Identifiers:
MONDO: MONDO:0014205; MedGen: C4750837; Orphanet: 352577; OMIM: 615485

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443582GenomeConnect - Simons Searchlight
no assertion criteria provided
Pathogenic
(May 25, 2018) 		inheritedprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443582.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-05-25 and interpreted as Pathogenic. Variant was initially reported on 2018-02-15 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. Variant was identified in multiple siblings. Additional phenotypic information for other sibling(s) might be available from Simons Searchlight.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023